Peer-reviewed veterinary case report
Miniature Schnauzers with gene mutation and reproductive tumors
By Dzimira, S et al.·Published in Journal of comparative pathology·2018·Department of Pathology·View original on PubMed →
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Original publication title: Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene.
- Species:
- dog
Plain-English summary
A Miniature Schnauzer with a genetic condition called persistent Müllerian duct syndrome (PMDS) was found to have a Sertoli cell tumor in one of its testicles. Another Miniature Schnauzer with the same condition had both testicles descended but developed an abdominal mass from the uterine wall, which turned out to be a leiomyoma (a type of tumor). Both dogs had underlying genetic mutations that contributed to their conditions. Treatment options would typically involve surgical removal of the tumors, but the specific outcomes for these dogs were not detailed.
People also search for: Miniature Schnauzer tumor treatment · persistent Müllerian duct syndrome in dogs · Sertoli cell tumor symptoms in dogs
Abstract
Disorders of sex development (DSD) are a serious health problem in dogs. Different types of DSD have been described, including persistent Müllerian duct syndrome (PMDS), for which the molecular background has been identified in miniature schnauzers. Human patients with PMDS are at increased risk for cancers of the gonads (predominantly) or the Müllerian duct structures (rarely). This report describes two miniature schnauzer dogs with PMDS caused by a known nonsense mutation in the AMHR2 gene, with concurrent development of genital neoplasia. The first case (78,XY and SRY-positive) had unilateral cryptorchidism and a Sertoli cell tumour in the abdominal testicle. The second case (mosaic karyotype 77,XY,rob/78,XY and SRY-positive) had both gonads descended in the scrotum and developed an abdominal mass derived from the uterine wall, which showed histological features typical of leiomyoma.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30173854/